《医学遗传学》第四章 人类染色体与染色体病

Dark Ages Hypotonic Period Trisomy Period
Lejeune J, et al. Etude des chromosomes somatiques de neuf enfants mongoliens. G. R. Acad. Sciences. 1959; 248: 1721-1722 Ford CE, et al. A sex chromosomal anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet. 1959; 1: 711-713 Jacob PA, et al. A case of human intersexuality having a possible XXY sex determining mechanism. Nature. 1959; 183: 302-303.
N-banding：AgNO3＋Giemsa, NOR
Banding Pattern
Landmark Region Band
Xq28
1 2 3 4 5 6 7 8
2 1 1
Xp
Xq
2
Development
1. High resolution banding chromosome (HRBC)
Development
18号染色体
21号染色体
Development
1. High resolution banding chromosome (HRBC)
2. Microcytogenetics
3. Molecular cytogenetics

FISH (fluorescence in situ hybridization) DNA fiber-FISH
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Q-banding：QM
Banding Pattern
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Q-banding：QM
G-banding：pancreatin＋Giemsa R-banding：treated specimen＋Giemsa or Acridine Orange C-banding：Y chromosome, centromere, secondary constriction
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Q-banding：QM
G-banding：pancreatin＋Giemsa R-banding：treated specimen＋Giemsa or Acridine Orange
of a cell into a karyotype, then analysis and compare with Denver system.
Denver System
Banding Pattern
Band（带）: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Banding pattern（带型）：treated with chemical dyes, 24 types of chromosomes appear its unique striations individually.
Denver System
The karyotype is a photograph of all of the chromosomes of an individual cell; the term covers the number, relative sizes and structure of the chromosomes.
核型：一个体细胞中的全部染色体，按其大 小、形态特征顺序排列所构成的图像。
Denver System
Chromosome can be distinguished by the relative sizes and the position of the centromere.
Metacentric (1, 3, 16, 19, 20)
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Q-banding：QM
G-banding：pancreatin＋Giemsa R-banding：treated specimen＋Giemsa or Acridine Orange C-banding：Y chromosome, centromere, secondary constriction T-banding：ending of chromosome
DNA fiber-FISH
Leabharlann Baidu
3 cosmid from MHC locus 35～40 Kb/cosmid
Development
1. High resolution banding chromosome (HRBC)
2. Microcytogenetics
3. Molecular cytogenetics
Hsu TC. Mammalian chromosomes in vitro. I. The karyotype of man. J Hered. 1952; 43: 167-172 Tjio JH, Levan A. The chromosome number of man. Am J Obstet Gynecol. 1956; 130: 723-724

FISH (fluorescence in situ hybridization) DNA fiber-FISH Chromosome Painting
Chromosome Painting
Chromosome Painting
Chromosomal Aberration

Numerical Abnormality Structural Aberration
非整倍体: the chromosome number is not an exact multiple of the haploid（单倍体） number
Numerical Abnormality
整倍体
三倍体: the cell which has 3 sets (genomes) of chromosomes —— 3n ＝ 69
Numerical Abnormality
整倍体
三倍体: the cell which has 3 sets (genomes) of chromosomes —— 3n ＝ 69
Tripolar spindle
Numerical Abnormality
Acrocentric Submetacentric (13, 14, 15, 21, 22, Y) (2, 4-12, 17, 18, X)
Denver System
The karyotype is a photograph of all of the chromosomes of an individual cell; the term covers the number, relative sizes and structure of the chromosomes. Karyotype analysis: arranging the chromosomes
1. High resolution banding chromosome (HRBC)
2. Microcytogenetics
3. Molecular cytogenetics

FISH (fluorescence in situ hybridization)
FISH
FISH
X染色体
Y染色体
13号染色体
第四章 人类染色体和染色体病
Dark Ages
Painter TS. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool. 1923; 37: 291-336
Dark Ages Hypotonic Period
1970; 60: 315-319
Dark Ages
Hypotonic Period Trisomy Period Banding Era Molecular Era
Pardue ML, et al. Molecular hybridization of radioactive DNA to the DNA of cytological preparations. Proc. Natl. Acad. Sci. USA. 1969; 64: 600 - 604 Pinkel D, et al. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 1986; 83: 2934-2938.
Numerical Abnormality
单倍体: 22+X, 22+Y 二倍体: 44+XX, 44+XY
Numerical Abnormality
Variation in chromosome number can take 2 forms:
整倍体: that which involves whole sets (genomes) of chromosomes
Banding Pattern
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Q-banding：QM
G-banding：pancreatin＋Giemsa R-banding：treated specimen＋Giemsa or Acridine Orange C-banding：Y chromosome, centromere, secondary constriction T-banding：ending of chromosome
Band: treated with chemical dyes, the chromosome will appear as a series of alternate dark and light striations. Q-banding：QM
G-banding：pancreatin＋Giemsa
Dark Ages Hypotonic Period Trisomy Period Banding Era
Caspersson T, et al. Differential banding of alkylating fluorochromes in human chromosomes. Exp Cell Res.